HIF1A, hypoxia inducible factor 1 subunit alpha, 3091

N. diseases: 1044; N. variants: 15
Disease: Aplasia Cutis Congenita ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0282160
Disease: Aplasia Cutis Congenita
Aplasia Cutis Congenita 		0.030 AlteredExpression disease BEFREE HIF1α expression was demonstrated in ACC cell lines (ACC2 and ACCM). 28179306 2017
CUI: C0282160
Disease: Aplasia Cutis Congenita
Aplasia Cutis Congenita 		0.030 Biomarker disease BEFREE The hypoxia‑inducible factor 1α/B cell lymphoma 2/adenovirus E1B 19K‑interacting protein 3 signaling pathway was involved in hypoxia‑induced autophagy in ACC. 26323347 2015
CUI: C0282160
Disease: Aplasia Cutis Congenita
Aplasia Cutis Congenita 		0.030 Biomarker disease BEFREE Our findings provide the novel insight that HIF-1α-dependent VEGF overexpression under hypoxic conditions shows to some extent associations with the metastatic tendency of ACC cells and may function as a potential target for ACC therapy. 24510998 2014